ALK3was also important during the morphogenesis of atrioventricular valves and annulus fibrosus and studies demonstrated that inactivation of Alk3 in the atrioventricular canal myocardium causes abnormalities.29This cardiac phenotype was consistent with our patients who carried a larger 10q deletions (atrioventricular septal defect [AVSD], atrial septal defect, VSD, and tricuspid insufficiency). This evidence concerns the gene BMPR1A and ventricular septal defect.